Canonical Allele Identifier: CA184682368
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1253090
ClinVar RCV Id: RCV001650552
dbSNP Id: rs112373962
gnomAD v2: 8-119122245-AT-A
gnomAD v3: 8-118110006-AT-A
gnomAD v4: 8-118110006-AT-A
MyVariant Identifiers: chr8:g.119122246del (hg19) chr8:g.118110007del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110007del , CM000670.2:g.118110007del GRCh38
NC_000008.10:g.119122246del , CM000670.1:g.119122246del GRCh37
NC_000008.9:g.119191427del NCBI36
NG_007455.2:g.6813del , LRG_493:g.6813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.962+78del MANE Select ENSP00000367446.3:n.962+78del
ENST00000436216.2:c.330+78del
ENST00000378204.6:c.962+78del ENSP00000367446.2:n.962+78del
ENST00000436216.1:c.330+78del
ENST00000437196.1:c.73+967del ENSP00000407299.1:n.73+967del
NM_000127.2:c.962+78del , LRG_493t1:c.962+78del NP_000118.2:n.962+78del
NM_000127.3:c.962+78del MANE Select NP_000118.2:n.962+78del
Search 100 bp 5'
Search 100 bp 3'